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A Tale Of Two Species: Evolvability, Genomic Context, And Pathogen Forecasting, Meghan May 2016 University of New England

A Tale Of Two Species: Evolvability, Genomic Context, And Pathogen Forecasting, Meghan May

Biomedical Sciences Faculty Presentations

Dr. Meghan May gives an overview presentation of her research on evolution of virulence and pathogen prediction. The focus of the presentation is a group of organisms called mycoplasmas, and covered subjects include: Mycoplasma synoviae, Mycoplasma gallisepticum, genomic context, predictive modeling, sequence evolution, and genome reduction.


Regulation Of Polycystin-1 Function By Calmodulin Binding, Nicholas Doerr, Yidi Wang, Kevin R. Kipp, Guangyi Liu, Jesse J. Benza, Vladimir Pletnev, Tengis S. Pavlov, Alexander Staruschenko, Ashraf M. Mohieldin, Maki Takahashi, Surya M. Nauli, Thomas Weimbs 2016 University of California, Santa Barbara

Regulation Of Polycystin-1 Function By Calmodulin Binding, Nicholas Doerr, Yidi Wang, Kevin R. Kipp, Guangyi Liu, Jesse J. Benza, Vladimir Pletnev, Tengis S. Pavlov, Alexander Staruschenko, Ashraf M. Mohieldin, Maki Takahashi, Surya M. Nauli, Thomas Weimbs

Pharmacy Faculty Articles and Research

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disease that leads to progressive renal cyst growth and loss of renal function, and is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. The PC1/PC2 complex localizes to primary cilia and can act as a flow-dependent calcium channel in addition to numerous other signaling functions. The exact functions of the polycystins, their regulation and the purpose of the PC1/PC2 channel are still poorly understood. PC1 is an integral membrane protein with a large extracytoplasmic N-terminal domain and a short, ~200 amino acid C-terminal ...


Investigation Of Genetic Markers In Sub-Elite Australia Rules Football Players, Ysabel Jacob, Ashley Cripps, Tess Evans, Paola Chivers, Christopher Joyce, Ryan Anderton 2016 The University of Notre Dame Australia

Investigation Of Genetic Markers In Sub-Elite Australia Rules Football Players, Ysabel Jacob, Ashley Cripps, Tess Evans, Paola Chivers, Christopher Joyce, Ryan Anderton

Christopher Joyce

Natural genetic variation contributes towards athletic performance in various strength/power and endurance based sports. To date, no studies have explored the genetic predisposition towards skill and athletic performance in Australian Football (AF) players. The present pilot study recruited 30 sub-elite AF players who completed tests of endurance, power and technical skill. Specific polymorphisms in nine genes were screened, and assessed for a possible influence on athletic and skill traits. Statistical analysis using generalised  linear models identified a number of polymorphisms predictive of endurance and technical skill. The angiotensin-converting enzyme (ACE), normally responsible for regulation of body fluid volume, was ...


Law And The Sciences Of The Brain/Mind, Stephen J. Morse 2016 University of Pennsylvania Law School

Law And The Sciences Of The Brain/Mind, Stephen J. Morse

Faculty Scholarship

This chapter is a submission to the Oxford Handbook of Law and the Regulation of Technology edited by Roger Brownsword. It considers whether the new sciences of the brain/mind, especially neuroscience and behavioral genetics, are likely to transform the law’s traditional concepts of the person, agency and responsibility. The chapter begins with a brief speculation about why so many people think these sciences will transform the law. After reviewing the law’s concepts, misguided challenges to them, and the achievements of the new sciences, the chapter confronts the claim that these sciences prove that we are really not ...


Identification Of Potential Drug Targets In Cancer Signaling Pathways Using Stochastic Logical Models, Peican Zhu, Hamidreza Montazeri Aliabadi, Hasan Uludag, Jie Han 2016 Northwestern Polytechnical University

Identification Of Potential Drug Targets In Cancer Signaling Pathways Using Stochastic Logical Models, Peican Zhu, Hamidreza Montazeri Aliabadi, Hasan Uludag, Jie Han

Pharmacy Faculty Articles and Research

The investigation of vulnerable components in a signaling pathway can contribute to development of drug therapy addressing aberrations in that pathway. Here, an original signaling pathway is derived from the published literature on breast cancer models. New stochastic logical models are then developed to analyze the vulnerability of the components in multiple signalling sub-pathways involved in this signaling cascade. The computational results are consistent with the experimental results, where the selected proteins were silenced using specific siRNAs and the viability of the cells were analyzed 72 hours after silencing. The genes elF4E and NFkB are found to have nearly no ...


Transgenerational Epigenetic Effects Of Cocaine On Circadian Behavior And Cocaine Reward, Victoria Shaker 2016 Kent State University - Kent Campus

Transgenerational Epigenetic Effects Of Cocaine On Circadian Behavior And Cocaine Reward, Victoria Shaker

Undergraduate Research Symposium

Transgenerational Epigenetic Effects of Cocaine on Circadian Behavior and Cocaine Reward

Victoria Shaker, Ashley Shemery, Alex Yaw, & J. David Glass.

Department of Biological Sciences and School of Biomedical Sciences

Professor Glass served as the primary advisor. Ashley Shemery and Alex Yaw served as co-advisors.

Hypothesis: Cocaine irreversibly lengthens circadian period (tau), which could underlie the significant health issues of cocaine addiction. Others have reported that rewarding effects of paternal cocaine use are transgenerational. We hypothesize that the disruptive effects of cocaine on tau may also be transgenerational, causing altered subjective cocaine reward response in offspring (F1).

Methods: Male mice were exposed to cocaine-water (0.5 mg/ml) or water (control) for 6 wks. Immediately following treatment, the mice were mated with cocaine naïve dams. F1 reference for cocaine or sucrose (to test for reward specificity) was analyzed using a dual bottle (water and drug [0.15 mg/ml] or sucrose [2%]) free-choice regimen. Tau was analyzed using activity sensors with computerized data acquisition.

Results and Conclusions: Lengthened tau was evident in sires with forced cocaine compared to controls (24.18+0.17 vs. 24.07+0.02; p0.05). These data reveal that there is no transgenerational transmission of cocaine-lengthened tau in F1 males, but there was an alteration of tau in F1 females. Significantly, paternal cocaine intake significantly altered F1 preference for cocaine, but not sucrose, suggesting specificity to drug reward. Thus, cocaine addiction could involve a transgenerational paternal mode of inheritance.

Keywords: epigenetics, transgenerational, cocaine, sucrose, mice, sex differences, drug abuse, circadian, biological rhythms, addiction


Congenital Stationary Night Blindness In The Dog: Common Mutation In The Rpe65 Gene Indicates Founder Effect, Gustavo Aguirre, Victoria Baldwin, Sue Pearce-Kelling, Kristina Narfström, Kunal Ray, Gregory Acland 2016 University of Pennsylvania

Congenital Stationary Night Blindness In The Dog: Common Mutation In The Rpe65 Gene Indicates Founder Effect, Gustavo Aguirre, Victoria Baldwin, Sue Pearce-Kelling, Kristina Narfström, Kunal Ray, Gregory Acland

Gustavo D. Aguirre, VMD, PhD

Purpose: To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the United States and other countries, and are affected with congenital stationary night blindness. Methods: Fifteen briard dogs were studied, of which 10 were affected with csnb, and five were clinically normal. In addition, we tested samples from four Swedish dogs, and samples from a briard affected with progressive retinal atrophy. RPE65 cDNA was cloned a from retinal cDNA library by ...


Pharmacogenomic Management Of Familial Hypercholesterolemia: An Integrative Review Of The Literature, Brian V. Skibo 2016 University of Central Florida

Pharmacogenomic Management Of Familial Hypercholesterolemia: An Integrative Review Of The Literature, Brian V. Skibo

Honors in the Major Theses

The purpose of this thesis is to examine familial hypercholesterolemia (FH) and emerging pharmacogenomics therapies that propose to lower serum low density lipid (LDL) levels. The search of various data bases resulted in nine research articles being selected for review. Syntheses of the articles suggest emerging phamacogenomic drug therapy can improve treatment outcomes for individuals with a diagnosis of FH. The Human Genome Project (HGP) has had far reaching applications for genomic technologies and pharmacagenomic interventions, tailored to human conditions associated with select genomic traits. Synthesis of nine research articles demonstrate that little is known on the topic and reveals ...


Comorbidity Between Alzheimer’S Disease And Seizure Episodes, Maryam Amini 2016 University of Colorado, Boulder

Comorbidity Between Alzheimer’S Disease And Seizure Episodes, Maryam Amini

Undergraduate Honors Theses

Abstract

A mouse model of Alzheimer’s disease (AD), which overexpress the human amyloid precursor protein (APP), experience Kainic Acid (KA) induced seizures that are more severe than wild type (WT) mice. The latency and severity of seizures observed in AD mice are similar to those of Synaptophysin knockout (Syp KO) mice. Addition of amyloid plaques (Aβ) to cells in vitro leads to the breakdown of Syp-VAMP2 complex. In the present study, we investigated if the breakdown of Syp-VAMP2 complex is responsible for the observed seizure activity in AD mice. The binding of cholesterol to Syp is necessary for biogenesis ...


Molecular Genetics Of Ms4a6a And Alzheimer's Disease, Ryan Harpole 2016 University of Kentucky

Molecular Genetics Of Ms4a6a And Alzheimer's Disease, Ryan Harpole

Lewis Honors College Capstone Collection

Increased Alzheimer’s disease (AD) risk has previously been associated with a SNP called rs610932 near the gene MS4A6A. The goal of this experiment was to quantify the expression of two MS4A6A isoforms in the brains of AD and non-AD subjects, particularly as a function of rs610932 genotype. According to an article titled “Alzheimer’s Disease Susceptibility Variants in the MS4A6A Gene are Associated with Altered Levels of MS4A6A Expression in Blood”, MS4A6A has four different isoforms that have been reported to be differentially expressed in the blood of AD subjects compared to non-AD subjects (Petroula et al., 2014). After ...


Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna McDonald McGinn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium 2015 SUNY Upstate Medical University

Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna Mcdonald Mcginn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium

Robert J. Shprintzen

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of ...


Functional Analysis Of Genomic Variation And Impact On Molecular And Higher Order Phenotypes, Ashutosh Kumar Pandey 2015 University of Tennessee Health Science Center

Functional Analysis Of Genomic Variation And Impact On Molecular And Higher Order Phenotypes, Ashutosh Kumar Pandey

Theses and Dissertations (ETD)

Reverse genetics methods, particularly the production of gene knockouts and knockins, have revolutionized the understanding of gene function. High throughput sequencing now makes it practical to exploit reverse genetics to simultaneously study functions of thousands of normal sequence variants and spontaneous mutations that segregate in intercross and backcross progeny generated by mating completely sequenced parental lines. To evaluate this new reverse genetic method we resequenced the genome of one of the oldest inbred strains of mice—DBA/2J—the father of the large family of BXD recombinant inbred strains. We analyzed ~100X wholegenome sequence data for the DBA/2J strain ...


Role Of Stat3 In Human Nk Cell Functions, Prasad V. Phatarpekar 2015 The University of Texas Graduate Schoolf of Biomedical Sciences at Houston

Role Of Stat3 In Human Nk Cell Functions, Prasad V. Phatarpekar

UT GSBS Dissertations and Theses (Open Access)

Natural Killer (NK) cells are cytotoxic lymphocytes, which play a critical role in the immune response against malignant cells and microbial infections. NK cells are equipped with activating receptors, which upon detecting ligands expressed on stressed cells induce cytolytic activity of NK cells. Stimulation of NK cell proliferation and priming of NK cytolytic capability are accomplished by cytokines, which mediate their signals mainly through JAK-STAT signaling pathway. Previously, we found that K562 cells genetically modified to express membrane bound IL-21 (mbIL-21), which predominantly activates STAT3, induce robust expansion and activation of human NK cells. Further investigations revealed role of STAT3 ...


Problem Solving Skill And Obesity In Children, Caitlin R. Spano 2015 Eleanor Mann School of Nursing

Problem Solving Skill And Obesity In Children, Caitlin R. Spano

The Eleanor Mann School of Nursing Undergraduate Honors Theses

Abstract:

Introduction: Childhood obesity is a problem that leads to many serious health effects including early maturation, decreased quality of life and increased risk for cardiovascular disease. In 2012, over one third of children were considered obese (Childhood Obesity Facts 2015). Efforts have been made to reduce this number but they have not been fully successful (Nutrition Standards for School Meals 2015, Prevalence of Childhood obesity in the United States 2011-2012 2015). What other factors are causing kids to choose foods that lead to weight gain.

Literature Review: In research regarding psychological motivations of overeating, there has been a correlation ...


Plasma Micrornas Are Associated With Atrial Fibrillation (The Mirhythm Study) And Change After Catheter-Ablation, David McManus, Kahraman Tanriverdi, Honghuang Lin, Nada Esa, Menhel Kinno, Rosalind Lee, Divakar Mandapati, Stanley Tam, Patrick Ellinor, John Keaney, Emelia Benjamin, Victor Ambros, Jane Freedman 2015 University of Massachusetts Medical School

Plasma Micrornas Are Associated With Atrial Fibrillation (The Mirhythm Study) And Change After Catheter-Ablation, David Mcmanus, Kahraman Tanriverdi, Honghuang Lin, Nada Esa, Menhel Kinno, Rosalind Lee, Divakar Mandapati, Stanley Tam, Patrick Ellinor, John Keaney, Emelia Benjamin, Victor Ambros, Jane Freedman

Victor R. Ambros

Background: Atrial fibrillation (AF) is the most common dysrhythmia in the U.S. and Europe. Few biomarkers exist to identify individuals at risk for AF. Cardiac microRNAs (miRNAs) have been implicated in susceptibility to AF and are detectable in the circulation. Nevertheless, data are limited on how circulating levels of miRNAs relate to AF or change over time after catheter- ablation.

Methods: In 211 miRhythm participants (112 with paroxysmal or persistent AF; 99 without AF), we quantified plasma expression of 86 miRNAs associated with cardiac remodeling or disease by high-throughput quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR). We used qRT-PCR to ...


Conformational Changes And Translocation Of Tissue-Transglutaminase To The Plasma Membranes: Role In Cancer Cell Migration, Ambrish Kumar, Jianjun Hu, Holly LaVoie, Kenneth Walsh, Donald DiPette, Ugra Singh 2015 University of South Carolina - Columbia

Conformational Changes And Translocation Of Tissue-Transglutaminase To The Plasma Membranes: Role In Cancer Cell Migration, Ambrish Kumar, Jianjun Hu, Holly Lavoie, Kenneth Walsh, Donald Dipette, Ugra Singh

Jianjun Hu

Background Tissue-transglutaminase (TG2), a dual function G-protein, plays key roles in cell differentiation and migration. In our previous studies we reported the mechanism of TG2-induced cell differentiation. In present study, we explored the mechanism of how TG2 may be involved in cell migration. Methods To study the mechanism of TG2-mediated cell migration, we used neuroblastoma cells (SH-SY5Y) which do not express TG2, neuroblastoma cells expressing exogenous TG2 (SHYTG2), and pancreatic cancer cells which express high levels of endogenous TG2. Resveratrol, a natural compound previously shown to inhibit neuroblastoma and pancreatic cancer in the animal models, was utilized to investigate the ...


Tslp-Induced Mechanisms And Potential Therapies For Crlf2 B-Cell Acute Lymphoblastic Leukemia, Olivia L. Francis 2015 Loma Linda University

Tslp-Induced Mechanisms And Potential Therapies For Crlf2 B-Cell Acute Lymphoblastic Leukemia, Olivia L. Francis

Loma Linda University Electronic Theses, Dissertations & Projects

Childhood CRLF2 B-cell Acute Lymphoblastic Leukemia (CRLF2 B-ALL) is a high-risk form of leukemia that is associated with poor patient survival outcomes. CRLF2 B-ALL is five times more prevalent in Hispanic children than others and is associated with a higher rate of relapse, thus contributing significantly to childhood cancer health disparities. This disease occurs due to alterations of the CRLF2 gene, leading to overexpression of the CRLF2 protein- a component of the receptor signaling complex for the cytokine Thymic Stromal LymphoPoietin (TSLP) on the surface of B-ALL cells. TSLP has been shown to induce proliferation of human and mouse B-cell ...


Genetic Exploration Of Valproate Induced Weight Gain, Joseph M. Chukwu 2015 Royal College of Surgeons in Ireland

Genetic Exploration Of Valproate Induced Weight Gain, Joseph M. Chukwu

MD theses

Background

Childhood obesity has both long- and short-term health consequences and is a growing public health problem in Ireland (O’Neill et al, 2007; Finucane et al, 2008; Riddoch et al, 1991). Medications used in the treatment of chronic medical conditions like epilepsy and psychiatric illness might be contributing to this epidemic (Ben-Menachem, 2007, Pickrell, 2013; Martine). Epilepsy affects about 50 million people worldwide with about 40,000 people living with the condition in Ireland (JEC, 2011, Linehan et al, 2010). Sodium valproate (VPA) is an effective anti-epileptic drug, but up to 71% of the patients exposed to the drug ...


Comparison Of Next Generation Sequencing Methodology On The Ion Pgm™ System Performance Versus That On The Sanger Sequencing Method For Hv1 And Hv2 Regions Of Mtdna, Wendy C. Argueta B.S. 2015 University of North Texas Health Science Center at Fort Worth

Comparison Of Next Generation Sequencing Methodology On The Ion Pgm™ System Performance Versus That On The Sanger Sequencing Method For Hv1 And Hv2 Regions Of Mtdna, Wendy C. Argueta B.S.

Theses and Dissertations

Analysis of mitochondrial DNA in forensic applications has enabled the identification of a missing person through comparison with additional maternal relatives. Most forensic applications are based on sequencing of both hypervariable regions of the mtDNA. Sequencing of these regions has been commonly done using Sanger-type sequencing (STS) methodology, which is expensive, time-consuming and laborious. Next Generation Sequencing (NGS) technology, such as the Ion Torrent PGM™ System platform, overcomes most of these issues. In this study, samples from the Guatemalan population (n=40) were sequenced with both Ion Torrent PGM™ technology and STS methods. A high level of consistency (98%) was ...


Src Homology 2 Domain-Containing 5’-Inositol Phosphatase-2 (Ship2) Is An Effector Of Lymphatic Dysfunction, Germaine D. Agollah 2015 The University of Texas Graduate School of Biomedical Sciences at Houston

Src Homology 2 Domain-Containing 5’-Inositol Phosphatase-2 (Ship2) Is An Effector Of Lymphatic Dysfunction, Germaine D. Agollah

UT GSBS Dissertations and Theses (Open Access)

The lymphatic system is essential for the transport of excess fluid, protein, and foreign materials from interstitial tissues to lymph nodes; for immune surveillance, and to maintain fluid homeostasis. Dysregulated lymphatics can be attributed to pathological conditions including tumor metastasis, inflammation, chronic wounds, obesity, blood vascular disorders, and lymphedema. Of these, lymphedema is the most extreme of lymphatic disorders and is represented by a spectrum of symptoms ranging from mild, subtle presentation to severe, disfiguring, overt presentation. Lymphedema is more manageable in the early stages of disease but severely reduces quality of life with progression. Due to lack of molecular ...


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